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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cystinuria
Summary
- Definition
- An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
- Super Class
- amino acid metabolic disorder bladder disease kidney disease ureteral disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6476 | SI | sucrase-isomaltase | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 | |
| 7086 | TKT | transketolase | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 7360 | UGP2 | UDP-glucose pyrophosphorylase 2 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 852602 | MAL32 | alpha-glucosidase MAL32 | |
| 853204 | IMA1 | oligo-1,6-glucosidase IMA1 | |
| 853209 | MAL12 | alpha-glucosidase MAL12 | |
| 853214 | IMA5 | oligo-1,6-glucosidase IMA5 | |
| 853235 | IMA4 | oligo-1,6-glucosidase IMA4 | |
| 854008 | IMA2 | oligo-1,6-glucosidase IMA2 | |
| 854635 | IMA3 | oligo-1,6-glucosidase IMA3 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0003297 | Hyperlysinuria |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003131 | Cystinuria |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003268 | Argininuria |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0003532 | Ornithinuria |
| HP:0000787 | Nephrolithiasis |
